ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.180G>A (p.Trp60Ter)

dbSNP: rs1554043139
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002544806 SCV000815879 pathogenic Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2018-05-10 criteria provided, single submitter clinical testing Loss-of-function variants in TERT are known to be pathogenic (PMID: 16247010, 17460043). This variant has not been reported in the literature in individuals with TERT-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Trp60*) in the TERT gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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